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P13498

- CY24A_HUMAN

UniProt

P13498 - CY24A_HUMAN

Protein

Cytochrome b-245 light chain

Gene

CYBA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi94 – 941Iron (heme axial ligand)Sequence Analysis

    GO - Molecular functioni

    1. electron carrier activity Source: UniProtKB
    2. heme binding Source: InterPro
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: IntAct
    5. protein heterodimerization activity Source: BHF-UCL
    6. SH3 domain binding Source: BHF-UCL
    7. superoxide-generating NADPH oxidase activity Source: Ensembl

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
    2. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
    3. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
    4. cellular response to amino acid stimulus Source: Ensembl
    5. cellular response to gamma radiation Source: Ensembl
    6. cellular response to glucose stimulus Source: Ensembl
    7. cellular response to mechanical stimulus Source: Ensembl
    8. cellular response to organic cyclic compound Source: Ensembl
    9. cellular response to tumor necrosis factor Source: Ensembl
    10. cytochrome complex assembly Source: BHF-UCL
    11. hydrogen peroxide biosynthetic process Source: BHF-UCL
    12. inflammatory response Source: BHF-UCL
    13. innate immune response Source: BHF-UCL
    14. interaction with host Source: Reactome
    15. negative regulation of glomerular filtration by angiotensin Source: Ensembl
    16. oxidation-reduction process Source: BHF-UCL
    17. phagosome maturation Source: Reactome
    18. positive regulation of cell growth Source: Ensembl
    19. positive regulation of endothelial cell proliferation Source: Ensembl
    20. respiratory burst Source: BHF-UCL
    21. response to drug Source: Ensembl
    22. response to interleukin-1 Source: Ensembl
    23. response to nutrient levels Source: Ensembl
    24. smooth muscle hypertrophy Source: BHF-UCL
    25. superoxide anion generation Source: BHF-UCL
    26. superoxide metabolic process Source: BHF-UCL

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Electron transport, Transport

    Keywords - Ligandi

    Heme, Iron, Metal-binding, NADP

    Enzyme and pathway databases

    ReactomeiREACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
    REACT_121256. Phagosomal maturation (early endosomal stage).

    Protein family/group databases

    TCDBi5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome b-245 light chain
    Alternative name(s):
    Cytochrome b(558) alpha chain
    Cytochrome b558 subunit alpha
    Neutrophil cytochrome b 22 kDa polypeptide
    Superoxide-generating NADPH oxidase light chain subunit
    p22 phagocyte B-cytochrome
    p22-phox
    Short name:
    p22phox
    Gene namesi
    Name:CYBA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:2577. CYBA.

    Subcellular locationi

    Cell membrane 2 Publications

    GO - Cellular componenti

    1. apical plasma membrane Source: Ensembl
    2. dendrite Source: Ensembl
    3. Golgi apparatus Source: Ensembl
    4. membrane Source: UniProtKB
    5. mitochondrion Source: Ensembl
    6. NADPH oxidase complex Source: BHF-UCL
    7. neuronal cell body Source: Ensembl
    8. phagocytic vesicle membrane Source: Reactome
    9. secretory granule Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241G → R in ARCGD. 3 Publications
    Corresponds to variant rs28941476 [ dbSNP | Ensembl ].
    VAR_012755
    Natural varianti25 – 251G → V in ARCGD. 1 Publication
    Corresponds to variant rs179363891 [ dbSNP | Ensembl ].
    VAR_060576
    Natural varianti52 – 521L → P in ARCGD. 1 Publication
    Corresponds to variant rs179363890 [ dbSNP | Ensembl ].
    VAR_060577
    Natural varianti53 – 531E → V in ARCGD. 1 Publication
    Corresponds to variant rs179363893 [ dbSNP | Ensembl ].
    VAR_060578
    Natural varianti90 – 901R → Q in ARCGD. 1 Publication
    VAR_005123
    Natural varianti90 – 901R → W in ARCGD. 1 Publication
    Corresponds to variant rs179363892 [ dbSNP | Ensembl ].
    VAR_060579
    Natural varianti94 – 941H → R in ARCGD. 1 Publication
    VAR_005124
    Natural varianti118 – 1181S → R in ARCGD. 2 Publications
    Corresponds to variant rs104894514 [ dbSNP | Ensembl ].
    VAR_005125
    Natural varianti124 – 1241A → V in ARCGD. 1 Publication
    Corresponds to variant rs179363894 [ dbSNP | Ensembl ].
    VAR_060580
    Natural varianti125 – 1251A → T in ARCGD. 1 Publication
    VAR_060581
    Natural varianti156 – 1561P → Q in ARCGD. 1 Publication
    VAR_005126

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi157 – 1571P → Q: Loss of interaction with NOXO1. 1 Publication

    Keywords - Diseasei

    Chronic granulomatous disease, Disease mutation

    Organism-specific databases

    MIMi233690. phenotype.
    Orphaneti379. Chronic granulomatous disease.
    PharmGKBiPA27075.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 195194Cytochrome b-245 light chainPRO_0000144907Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei147 – 1471Phosphothreonine1 Publication
    Modified residuei168 – 1681PhosphoserineBy similarity

    Post-translational modificationi

    The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
    Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP13498.
    PaxDbiP13498.
    PeptideAtlasiP13498.
    PRIDEiP13498.

    PTM databases

    PhosphoSiteiP13498.

    Expressioni

    Gene expression databases

    ArrayExpressiP13498.
    BgeeiP13498.
    CleanExiHS_CYBA.
    GenevestigatoriP13498.

    Organism-specific databases

    HPAiCAB009492.

    Interactioni

    Subunit structurei

    Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1 (via SH3 domain). Interacts with SH3PXD2A By similarity. Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9).By similarity5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCF1P145987EBI-986058,EBI-395044
    NOXO1Q8NFA26EBI-986058,EBI-7130806

    Protein-protein interaction databases

    BioGridi107915. 8 interactions.
    DIPiDIP-37650N.
    IntActiP13498. 7 interactions.
    MINTiMINT-5209680.
    STRINGi9606.ENSP00000261623.

    Structurei

    Secondary structure

    1
    195
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi161 – 1655

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1WLPNMR-A149-168[»]
    ProteinModelPortaliP13498.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP13498.

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei91 – 12737Add
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi133 – 18957Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the p22phox family.Curated

    Phylogenomic databases

    eggNOGiNOG39609.
    HOGENOMiHOG000001585.
    HOVERGENiHBG051278.
    InParanoidiP13498.
    KOiK08009.
    OMAiKIEWAMW.
    PhylomeDBiP13498.
    TreeFamiTF328901.

    Family and domain databases

    InterProiIPR007732. Cyt_b558_asu.
    [Graphical view]
    PANTHERiPTHR15168. PTHR15168. 1 hit.
    PfamiPF05038. Cytochrom_B558a. 1 hit.
    [Graphical view]
    PIRSFiPIRSF019635. Cytochr_b558a. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P13498-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGQIEWAMWA NEQALASGLI LITGGIVATA GRFTQWYFGA YSIVAGVFVC    50
    LLEYPRGKRK KGSTMERWGQ KYMTAVVKLF GPFTRNYYVR AVLHLLLSVP 100
    AGFLLATILG TACLAIASGI YLLAAVRGEQ WTPIEPKPRE RPQIGGTIKQ 150
    PPSNPPPRPP AEARKKPSEE EAAVAAGGPP GGPQVNPIPV TDEVV 195
    Length:195
    Mass (Da):21,013
    Last modified:November 2, 2010 - v3
    Checksum:i428427AD19398240
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241G → R in ARCGD. 3 Publications
    Corresponds to variant rs28941476 [ dbSNP | Ensembl ].
    VAR_012755
    Natural varianti25 – 251G → V in ARCGD. 1 Publication
    Corresponds to variant rs179363891 [ dbSNP | Ensembl ].
    VAR_060576
    Natural varianti52 – 521L → P in ARCGD. 1 Publication
    Corresponds to variant rs179363890 [ dbSNP | Ensembl ].
    VAR_060577
    Natural varianti53 – 531E → V in ARCGD. 1 Publication
    Corresponds to variant rs179363893 [ dbSNP | Ensembl ].
    VAR_060578
    Natural varianti72 – 721Y → H.3 Publications
    Corresponds to variant rs4673 [ dbSNP | Ensembl ].
    VAR_005122
    Natural varianti90 – 901R → Q in ARCGD. 1 Publication
    VAR_005123
    Natural varianti90 – 901R → W in ARCGD. 1 Publication
    Corresponds to variant rs179363892 [ dbSNP | Ensembl ].
    VAR_060579
    Natural varianti94 – 941H → R in ARCGD. 1 Publication
    VAR_005124
    Natural varianti118 – 1181S → R in ARCGD. 2 Publications
    Corresponds to variant rs104894514 [ dbSNP | Ensembl ].
    VAR_005125
    Natural varianti124 – 1241A → V in ARCGD. 1 Publication
    Corresponds to variant rs179363894 [ dbSNP | Ensembl ].
    VAR_060580
    Natural varianti125 – 1251A → T in ARCGD. 1 Publication
    VAR_060581
    Natural varianti156 – 1561P → Q in ARCGD. 1 Publication
    VAR_005126
    Natural varianti171 – 1711E → G.1 Publication
    Corresponds to variant rs72667005 [ dbSNP | Ensembl ].
    VAR_060582
    Natural varianti174 – 1741V → A.5 Publications
    Corresponds to variant rs1049254 [ dbSNP | Ensembl ].
    VAR_054801
    Natural varianti193 – 1931E → D.1 Publication
    VAR_060583

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M21186 mRNA. Translation: AAA90925.1.
    BT006861 mRNA. Translation: AAP35507.1.
    AC116552 Genomic DNA. No translation available.
    BC006465 mRNA. Translation: AAH06465.1.
    AH002664 Genomic DNA. Translation: AAA52134.1.
    CCDSiCCDS32504.1.
    PIRiA28201.
    RefSeqiNP_000092.2. NM_000101.3.
    UniGeneiHs.513803.

    Genome annotation databases

    EnsembliENST00000261623; ENSP00000261623; ENSG00000051523.
    GeneIDi1535.
    KEGGihsa:1535.
    UCSCiuc002flb.4. human.

    Polymorphism databases

    DMDMi311033459.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    CYBAbase

    CYBA mutation db

    SHMPD

    The Singapore human mutation and polymorphism database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M21186 mRNA. Translation: AAA90925.1 .
    BT006861 mRNA. Translation: AAP35507.1 .
    AC116552 Genomic DNA. No translation available.
    BC006465 mRNA. Translation: AAH06465.1 .
    AH002664 Genomic DNA. Translation: AAA52134.1 .
    CCDSi CCDS32504.1.
    PIRi A28201.
    RefSeqi NP_000092.2. NM_000101.3.
    UniGenei Hs.513803.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1WLP NMR - A 149-168 [» ]
    ProteinModelPortali P13498.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107915. 8 interactions.
    DIPi DIP-37650N.
    IntActi P13498. 7 interactions.
    MINTi MINT-5209680.
    STRINGi 9606.ENSP00000261623.

    Protein family/group databases

    TCDBi 5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

    PTM databases

    PhosphoSitei P13498.

    Polymorphism databases

    DMDMi 311033459.

    Proteomic databases

    MaxQBi P13498.
    PaxDbi P13498.
    PeptideAtlasi P13498.
    PRIDEi P13498.

    Protocols and materials databases

    DNASUi 1535.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261623 ; ENSP00000261623 ; ENSG00000051523 .
    GeneIDi 1535.
    KEGGi hsa:1535.
    UCSCi uc002flb.4. human.

    Organism-specific databases

    CTDi 1535.
    GeneCardsi GC16M088709.
    GeneReviewsi CYBA.
    H-InvDB HIX0013335.
    HGNCi HGNC:2577. CYBA.
    HPAi CAB009492.
    MIMi 233690. phenotype.
    608508. gene.
    neXtProti NX_P13498.
    Orphaneti 379. Chronic granulomatous disease.
    PharmGKBi PA27075.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39609.
    HOGENOMi HOG000001585.
    HOVERGENi HBG051278.
    InParanoidi P13498.
    KOi K08009.
    OMAi KIEWAMW.
    PhylomeDBi P13498.
    TreeFami TF328901.

    Enzyme and pathway databases

    Reactomei REACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
    REACT_121256. Phagosomal maturation (early endosomal stage).

    Miscellaneous databases

    ChiTaRSi CYBA. human.
    EvolutionaryTracei P13498.
    GenomeRNAii 1535.
    NextBioi 6349.
    PROi P13498.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P13498.
    Bgeei P13498.
    CleanExi HS_CYBA.
    Genevestigatori P13498.

    Family and domain databases

    InterProi IPR007732. Cyt_b558_asu.
    [Graphical view ]
    PANTHERi PTHR15168. PTHR15168. 1 hit.
    Pfami PF05038. Cytochrom_B558a. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF019635. Cytochr_b558a. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b."
      Parkos C.A., Dinauer M.C., Walker L.E., Allen R.A., Jesaitis A.J., Orkin S.H.
      Proc. Natl. Acad. Sci. U.S.A. 85:3319-3323(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 2-26, VARIANTS HIS-72 AND ALA-174.
    2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-174.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-174.
      Tissue: Brain.
    5. "Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease."
      Dinauer M.C., Pierce E.A., Bruns G.A.P., Curnutte J.T., Orkin S.H.
      J. Clin. Invest. 86:1729-1737(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-123, VARIANT ARCGD ARG-118.
    6. "Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils."
      Verhoeven A.J., Bolscher B.G., Meerhof L.J., van Zwieten R., Keijer J., Weening R.S., Roos D.
      Blood 73:1686-1694(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 51-195, VARIANTS HIS-72 AND ALA-174.
    7. "Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases."
      Takeya R., Ueno N., Kami K., Taura M., Kohjima M., Izaki T., Nunoi H., Sumimoto H.
      J. Biol. Chem. 278:25234-25246(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NOXO1, MUTAGENESIS OF PRO-157.
    8. "Site-specific inhibitors of NADPH oxidase activity and structural probes of flavocytochrome b: characterization of six monoclonal antibodies to the p22phox subunit."
      Taylor R.M., Burritt J.B., Baniulis D., Foubert T.R., Lord C.I., Dinauer M.C., Parkos C.A., Jesaitis A.J.
      J. Immunol. 173:7349-7357(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
    9. "Identification of a novel partner of duox: EFP1, a thioredoxin-related protein."
      Wang D., De Deken X., Milenkovic M., Song Y., Pirson I., Dumont J.E., Miot F.
      J. Biol. Chem. 280:3096-3103(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DUOX1; DUOX2 AND TPO.
    10. "The NADPH oxidase Nox3 constitutively produces superoxide in a p22phox-dependent manner: its regulation by oxidase organizers and activators."
      Ueno N., Takeya R., Miyano K., Kikuchi H., Sumimoto H.
      J. Biol. Chem. 280:23328-23339(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. "Functional analysis of Nox4 reveals unique characteristics compared to other NADPH oxidases."
      Martyn K.D., Frederick L.M., von Loehneysen K., Dinauer M.C., Knaus U.G.
      Cell. Signal. 18:69-82(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NOX4.
    12. "Phosphorylation of p22phox on threonine 147 enhances NADPH oxidase activity by promoting p47phox binding."
      Lewis E.M., Sergeant S., Ledford B., Stull N., Dinauer M.C., McPhail L.C.
      J. Biol. Chem. 285:2959-2967(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT THR-147.
    13. "Molecular interface of S100A8 with cytochrome b and NADPH oxidase activation."
      Berthier S., Nguyen M.V., Baillet A., Hograindleur M.A., Paclet M.H., Polack B., Morel F.
      PLoS ONE 7:E40277-E40277(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CALPROTECTIN.
    14. "NMR solution structure of the tandem Src homology 3 domains of p47phox complexed with a p22phox-derived proline-rich peptide."
      Ogura K., Nobuhisa I., Yuzawa S., Takeya R., Torikai S., Saikawa K., Sumimoto H., Inagaki F.
      J. Biol. Chem. 281:3660-3668(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 149-167 IN COMPLEX WITH NCF1, INTERACTION WITH NCF1.
    15. "Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox)."
      de Boer M., de Klein A., Hossle J.-P., Seger R., Corbeel L., Weening R.S., Roos D.
      Am. J. Hum. Genet. 51:1127-1135(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARCGD GLN-90 AND ARG-94.
    16. "Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease."
      Dinauer M.C., Pierce E.A., Erickson R.W., Muhlebach T.J., Messner H., Orkin S.H., Seger R.A., Curnutte J.T.
      Proc. Natl. Acad. Sci. U.S.A. 88:11231-11235(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARCGD GLN-156.
    17. "Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis."
      Hossle J.-P., de Boer M., Seger R.A., Roos D.
      Hum. Genet. 93:437-442(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARCGD VAL-53.
    18. "156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox."
      Leusen J.H., Bolscher B.G., Hilarius P.M., Weening R.S., Kaulfersch W., Seger R.A., Roos D., Verhoeven A.J.
      J. Exp. Med. 180:2329-2334(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT ARCGD GLN-156.
    19. "Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox)."
      Rae J., Noack D., Heyworth P.G., Ellis B.A., Curnutte J.T., Cross A.R.
      Blood 96:1106-1112(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARCGD ARG-24; VAL-25; PRO-52; TRP-90 AND ARG-118.
    20. "Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients."
      Yamada M., Ariga T., Kawamura N., Ohtsu M., Imajoh-Ohmi S., Ohshika E., Tatsuzawa O., Kobayashi K., Sakiyama Y.
      Br. J. Haematol. 108:511-517(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARCGD ARG-24.
    21. "Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency."
      Ishibashi F., Nunoi H., Endo F., Matsuda I., Kanegasaki S.
      Hum. Genet. 106:473-481(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARCGD ARG-24 AND VAL-124.
    22. "Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease."
      Teimourian S., Zomorodian E., Badalzadeh M., Pouya A., Kannengiesser C., Mansouri D., Cheraghi T., Parvaneh N.
      Br. J. Haematol. 141:848-851(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARCGD THR-125.
    23. "Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation."
      Bedard K., Attar H., Bonnefont J., Jaquet V., Borel C., Plastre O., Stasia M.-J., Antonarakis S.E., Krause K.-H.
      Hum. Mutat. 30:1123-1133(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HIS-72; GLY-171; ALA-174 AND ASP-193.

    Entry informationi

    Entry nameiCY24A_HUMAN
    AccessioniPrimary (citable) accession number: P13498
    Secondary accession number(s): Q14090, Q9BR72
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 1, 1990
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 150 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3